TY - JOUR AU - Daniela Pietra, AU - Angela Brisci, AU - Elisa Rumi, AU - Sabrina Boggi, AU - Chiara Elena, AU - Alessandro Pietrelli, AU - Roberta Bordoni, AU - Maurizio Ferrari, AU - Francesco Passamonti, AU - Gianluca De Bellis, AU - Laura Cremonesi, AU - Mario Cazzola, PY - 2011/03/31 Y2 - 2024/03/29 TI - Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms JF - Haematologica JA - haematol VL - 96 IS - 4 SE - Articles DO - 10.3324/haematol.2010.034793 UR - https://haematologica.org/article/view/5941 SP - 607-611 AB - Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 (V617F)-negative patients with essential thrombocythemia and primary myelofibrosis. We used direct sequencing and high-resolution melt analysis to identify mutations of MPL exon 10 in 570 patients with myeloproliferative neoplasms, and allele specific PCR and deep sequencing to further characterize a subset of mutated patients. Somatic mutations were detected in 33 of 221 patients (15%) with JAK2 (V617F)-negative essential thrombocythemia or primary myelofibrosis. Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). High-resolution melt analysis identified abnormal patterns in all the MPL mutated cases, while direct sequencing did not detect the mutant MPL in one fifth of them. In 3 cases carrying double MPL mutations, deep sequencing analysis showed identical load and location in cis of the paired lesions, indicating their simultaneous occurrence on the same chromosome. ER -